日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in INSR gene

病例报告:恩格列净治疗对由INSR基因两个杂合变异引起的Rabson-Mendenhall综合征患者血糖和肾功能的长期影响

Chrzanowska, Joanna; Lachowska, Julia; Weimann, Maja; Zubkiewicz-Kucharska, Agnieszka; Fornalczyk, Konstancja; Kilis-Pstrusińska, Katarzyna; Smigiel, Robert

Diagnostic patterns after adoption of shape-sensing robotic-assisted bronchoscopy: a retrospective cohort study

采用形状感知机器人辅助支气管镜后的诊断模式:一项回顾性队列研究

Ghali, Mounir; Wing, Sam E; Gaertner, Adam; Smigiel, Marci; Cantu, Cade A; Hahn, Peter Y

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder

患有ATP1A3相关神经系统疾病的患者出现眼睑肌阵挛性癫痫

Mertens, Ann; Papadopoulou, Maria T; Papathanasiou Terzi, Matthildi Athina; Lesca, Gaëtan; Biela, Mateusz; Smigiel, Robert; Panagiotakaki, Eleni

OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis

OTC基因重复可能是导致严重高氨血症并伴有致命预后的病因

Natalia, Borkowska; Lukasz, Kaluzny; Dariusz, Rokicki; Elzbieta, Szmida; Pawel, Kowalski; Monika, Dus-Zuchowska; Pawel, Skiba; Elzbieta, Ciara; Mateusz, Biela; Malgorzata, Rydzanicz; Rafal, Ploski; Robert, Smigiel

Oncostatin-M and OSM-Receptor Feed-Forward Activation of MAPK Induces Separable Stem-like and Mesenchymal Programs

抑癌素-M和OSM受体对MAPK的前馈激活诱导可分离的干细胞样和间充质程序

Kelsey L Polak ,Ilaria Tamagno ,Neetha Parameswaran ,Jacob Smigiel ,E Ricky Chan ,Xueer Yuan ,Brenda Rios ,Mark W Jackson

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

表达定量性状甲基化分析识别胎儿酒精综合症(FASD)的全血分子足迹

Izabela M Krzyzewska, Peter Lauffer, Adri N Mul, Liselot van der Laan, Andrew Y F Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A Chomczyk, Robert Smigiel, Marcel M A M Mannens, Peter Henneman

iPSC-derived myelinoids to study myelin biology of humans

利用iPSC衍生的髓鞘样细胞研究人类髓鞘生物学

James, Owen G; Selvaraj, Bhuvaneish T; Magnani, Dario; Burr, Karen; Connick, Peter; Barton, Samantha K; Vasistha, Navneet A; Hampton, David W; Story, David; Smigiel, Robert; Ploski, Rafal; Brophy, Peter J; Ffrench-Constant, Charles; Lyons, David A; Chandran, Siddharthan

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

早发性复杂神经发育综合征中的新生ATP1A1变异

Dohrn, Maike F; Rebelo, Adriana P; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J; Züchner, Stephan

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

首个食管闭锁全基因组关联研究发现了三个遗传风险位点,分别为 CTNNA3、FOXF1/FOXC2/FOXL1 和 HNF1B。

Gehlen, Jan; Giel, Ann-Sophie; Köllges, Ricarda; Haas, Stephan L; Zhang, Rong; Trcka, Jiri; Sungur, Ayse Ö; Renziehausen, Florian; Bornholdt, Dorothea; Jung, Daphne; Hoyer, Paul D; Nordenskjöld, Agneta; Tibboel, Dick; Vlot, John; Spaander, Manon C W; Smigiel, Robert; Patkowski, Dariusz; Roeleveld, Nel; van Rooij, Iris Alm; de Blaauw, Ivo; Hölscher, Alice; Pauly, Marcus; Leutner, Andreas; Fuchs, Joerg; Niethammer, Joel; Melissari, Maria-Theodora; Jenetzky, Ekkehart; Zwink, Nadine; Thiele, Holger; Hilger, Alina Christine; Hess, Timo; Trautmann, Jessica; Marks, Matthias; Baumgarten, Martin; Bläss, Gaby; Landén, Mikael; Fundin, Bengt; Bulik, Cynthia M; Pennimpede, Tracie; Ludwig, Michael; Ludwig, Kerstin U; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Herrmann, Bernhard G; Alsabeah, Kristina; Burgos, Carmen M; Lilja, Helene E; Azodi, Sahar; Stenström, Pernilla; Arnbjörnsson, Einar; Frybova, Barbora; Lebensztejn, Dariusz M; Debek, Wojciech; Kolodziejczyk, Elwira; Kozera, Katarzyna; Kierkus, Jaroslaw; Kaliciński, Piotr; Stefanowicz, Marek; Socha-Banasiak, Anna; Kolejwa, Michal; Piaseczna-Piotrowska, Anna; Czkwianianc, Elzbieta; Nöthen, Markus M; Grote, Phillip; Rygl, Michal; Reinshagen, Konrad; Spychalski, Nicole; Ludwikowski, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Ure, Benno; Muensterer, Oliver J; Aubert, Ophelia; Gosemann, Jan-Hendrik; Lacher, Martin; Degenhardt, Petra; Boemers, Thomas M; Mokrowiecka, Anna; Małecka-Panas, Ewa; Wöhr, Markus; Knapp, Michael; Seitz, Guido; de Klein, Annelies; Oracz, Grzegorz; Brosens, Erwin; Reutter, Heiko; Schumacher, Johannes